Aurora magazine

Unlike many cells in the rest of our body, the brain cells have variable DNA. It changes cell in cells, due to somatic changes. The phenomenon could explain diseases like Alzheimer's or autism, but remains largely unexplained. Scientists at the Sanford Burnham Prebys Medical Discovery Institute (SBP) have developed a new approach that allows us to identify the magnitude and location of these changes.

Thanks to the new technique, scientists have detected thousands of previously unknown variations. Many of these appear in the prenatal stage, particularly in the most important stages of brain development. It is therefore likely that they are an integral part of the process, even if its purpose is not yet known.

The study clarifies critical points on the number of changes in brain cell DNA. The merit is a technique that integrates cell sequencing. Because this destroys the cells examined in the process, the scientists recombined the DNA using immune cells. In this way they have created cell models with alterations, making it easier to detect them during analysis.

The technique was developed by a team formed by Illumina scientists. Applied to single cells during neurogenesis, it has allowed to find thousands of new genetic variants. Most of these were characterized by deleted DNA areas, while duplications were rarer. The variants were randomly distributed in the genome, but developed almost all in the neurogenesis period.

Source: medicalxpress.com

The surgeons of the Ann & Robert H. Lurie Children's Hospital in Chicago removed the ovarian tissue of a 5-month-old girl. The fabric has been cryopreserved, so as to allow the child to have a day of children, if she wants it. The girl has indeed been subjected to an anticancer treatment, which could affect her fertility.

The procedure was unique in its kind. The doctors removed a tiny ovary without damaging it. They kept it as intact as possible, so that it could be stored for future transplantation. When the baby is ready, the doctors will evaluate the best options available. One of these involves transplanting the tissue stored on the remaining ovary. In this way it will begin to ovulate and the doctors will be able to collect the oocytes for in vitro fertilization.

For the moment the technique is still experimental. For the time being, doctors have documented about 130 parts obtained in this way, almost all in the United States.

For the time being, only 2 of these have occurred in Europe. However, researchers are developing new techniques to increase the chances of success of the procedure.

Dr. Rowell, who participated in the intervention, said the researchers are working on new surgical techniques. The goal is to damage the fabric as little as possible, also improving its preservation. The technique could preserve the fertility of many small patients with tumors, but also genetic and endocrine diseases.

Source: luriechildrens.org

The team of Professor Federico Forneris of the University of Pavia has unveiled the molecular structure of the LH3 enzyme. The enzyme regulates the maturation of collagen, the protein that supports cells and tissues. A possible malfunction is related to rare genetic diseases and causes the formation of metastases in the case of a tumor.

The researchers reported for the first time the 3D molecular structure of LH3. To do this they used X-ray crystallography. This has allowed us to obtain many new details on the functioning of the enzyme. In particular, it has given a boost to research on genetic diseases of collagen.

The enzyme LH3 has an atypical molecular structure: two copies of the enzyme work simultaneously, forming an elongated geometry. That's why until yesterday there was little information on LH3. A 3D model was needed to understand its exact functioning. In addition, the researchers found that the enzyme performs more enzymatic activities, which is very rare.

The genetic abnormalities related to LH3 are the basis of serious genetic diseases of bone and connective tissues. Among these are osteogenesis imperfecta, Elhers-Danlos syndrome and Bruck's syndrome. Furthermore, the malfunction of LH3 facilitates the metastasis of different types of cancer. In fact, the enzyme creates collagen pathways around the tumor cells, stimulating their migration.

The Pavia team will use the strategies used for the LH3 study on other enzymes. The goal is to find the genetic and molecular causes that cause the formation of metastases. The hope is to be able to develop drugs that prevent the metastasis of solid tumors.

Source: lescienze.it

Behind the ultra rapid growth of certain tumors is the Nuak2 protein. The discovery comes from the team of Dr. Liliana Attisano, University of Toronto. Combined with genetic testing, it could pave the way for new and personalized treatments.

Nuak2 is a protein that interfaces with the Yap and Taz pair of molecules. Thanks to its action, the molecules modify some genes of cancer stem cells. They thus stimulate proliferation and increase the rate of tumor development. Furthermore, they stimulate the action of the gene that encodes the same protein Nuak2, giving way to a vicious circle. The overactive version of Nuak2 raises the protein levels, stimulating more molecules and influencing more cancer stem cells.

If you find a way to stop the mechanism, you could also stop the progress of the tumor. Researchers therefore aim to develop molecules that inhibit Nuak2. Once the production of the protein is blocked, the vicious circle would be interrupted and would wane. For the time being they have achieved good results in vitro and on animal models. It will take some time to get to the therapies on the man, but the road seems the right one.

If all goes well, in about ten years we will have a drug that inhibits the gene. Meanwhile, genetic tests can still give a big hand. The presence of Nuak2 is in fact a clear warning signal. In cases where it is present, it is already clear that the tumor will be likely to be aggressive and to be dealt with quickly.

Source: ansa.it